A 21 yr old female student from miryalaguda came with c/c shortness of breath

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 A 21 year old female  resident of miryalaguda  student by occupation came to general medicine op with. 

Chief complaints : 

Itching of the skin over hands and feet with swelling since 2 days  

Shortness of breath since 7 days 

History of presenting illness : 

Patient was apparently asymptomatic 19 years back than at the age of 2 she developed acute  edema over the fronto parietal region associated  with fever and irritability she was admitted in the hospital and got treated (  mentioned about  swelling relieved on lumbar puncture ) 

At the age of 4 she had an episode of giddiness and was unconscious, she was again admitted in the hospital and then they were told that she had low levels of hemoglobin ( 4.2gm%) and she underwent blood transfusion.( 2 bottles ) 

At the age of 14 she was taken to the hospital for general weakness easy fatigue and giddiness.  she was admitted in the hospital and had second episode ofblood transfusion, her hemoglobin level improved to 6 after blood transfusion.

Few months after blood transfusion she started feeling weak lethargy and again went to the hospital  then her blood hemoglobin went down to 4 and took medications 

Since 3 to 4 months she complains of joint pains 

Since 20 days she has allergy over her palms she has itching all over her hands relieved after taking medication at local hospital.and then. Developed swelling over hands and feet and then developed anasarca ( intermittently ) 20 days back 

Resolved by its own . Last episode 2 days back 

Developed shortness of breath which is gradual in onset intermittent non progressive not associated with cough ,fever,  vomitings aggregated on work and relived on rest 

From 10 years of age she started noticing hyperpigmentation patches on her body which was slowly progressive to current stage .(neurofibromatosis )

 No significant visual complaints 

No significant hearing complaints

Past History 

Had a of  history of trauma to head at the age of 10 while playing under a tree 

Not a known case of diabetes hypertension Asthama epilepsy TB and CAD

Personal History 

Vegetarian 

Adequate sleep 

Normal bowel  and bladder movements 

No addictions and no allergies 

Family History 

Her sister has low value of hemoglobin (hb -6 gm/dl),but her sister doesn’t complain of any weakness.and she donot have any skin lesions 

And mother also developed same lesions on the skin at aythe age of 20 yrs and she had no complaints of weakness and giddiness 

                        Daily routine: 

Childhood 

During the days she felt alright:

She wakes up at 6 Am ,does all the house hold work , she helps her mother and has breakfast at 8 Am and goes to school by walk (around 2 km ) , and comes back in the evening around 5 (by walk) and plays with her friends and has dinner at 8 pm and goes to sleep by 10 pm 

During summer holidays she went to work in the field ( cotton farms and chilli farms ) 

From morning 10 Am to evening 5 pm .

She studied till intermediate and didn’t go any further to college because of illness. 

After progression of her illness she didn’t go to work in the fields , she helped her mother in all the household activities.

General examination 

Patient is conscious, coherent and co-operative.

Mooderately built and moderately nourished.

Pallor - present 

Icterus - Absent

Cyanosis - Absent 

Clubbing - Absent 

No lymphadenopathy

Pedal edema- absent 

Vitals : 

Temperature - 98.2 F 

Blood Pressure - 120/80mm hg 

Pulse Rate -   82 bpm

Respiratory Rate -  16  cpm

 Systemic examination 

Abdomen : 

Inspection

Shape of abdomen : flat

Umbilicus : inverted 

All quadrants of abdomen move with respiration 

No visible peristalsis

pulsations

sinuses

engorged veins

hernial sites 

Palpation 

Abdomen soft

No local rise of temperature 

No tenderness

Inspectors findings are confirmed 

 moderate splenomegaly 

Palpation : 

Resonant note heard over all quadrants.

Auscultation:

Bowel sounds heard  

CVS examination 

Inspection: 

The chest wall is bilaterally symmetrical

No dilated veins, scars or sinuses are seen

Apical impulse not visible

Palpation : 

Apex beat localised 

Auscultation:

S1 and S2 heard

No Murmurs 

Respiratory system examination 

Inspection

Shape of chest: bilaterally symmetrical

Expansion of chest: Equal on both sides

Position of trachea: Central

No visible scars, sinuses, pulsations

Palpation 

Inspectory findings confirmed

No tenderness, local rise of temperature

Normal expansion of chest on both sides in all areas

Position of trachea: Central

Vocal fremitus: resonant note felt

Palpation : 

Resonant note heard over all areas

Auscultation: 

BAE positive

Vocal resonance: resonant in all areas

Cns examination :

No focal neurological deficit.

Ophthalmological examination

 

 Iris : Presence of lisch nodules in both the eyes 

 Left eye

Right eye

Specific 

Cafe au lait maculae’s 

Lesions on Her mother 

Which she developed at the age of 22 started as small lesions on the hand and were gradually increased in size and where all over the body 

 

She went to Osmania hospital around 20 yrs back and undergone excision of the lesions on the hand but the lesions were recurrent 

Investigations:

ECG  Normal 

2d echo :

Trivial TR/AR/MR 

No RWMA , NO AS/MS 

Good LV systolic function, No diastolic dysfunction.

4/7/2023 investigations 

Hemogram :

Hb-6.4

TlC- 11200

N /L/E/M -35,19,41,5

PCV-25.9 

MCV- 56.9

MCH-14.1

MCHC-24.7 

RDW-27.2

Smear: 

MICROCYTIC HYPOCHROMIC FEW PENCIL FORMS AND TARGET CELLS SEEN 

WBC :normal limit with eosinophilia 

Plt - adequate 

BGT :A positive 

RETICULOCYTE : 1.5 

BLOOD UREA -18

SERUM CREATININE:0.6

Na - 140 

K -4.7

Cl-102

LFT :

Total bilirubin: 0.49

Direct bilirubin:0.15

AST-14 

ALT-10 

ALP-128 

TP:6.7 

ALBUMIN: 4.35 

A/g :1.85 

Serology: negative.

Ultrasound 5/7/2023

Mild splenomegaly .

Serum ferritin :7.3

Stool for occult blood - negative 

 

Treatment  : 

 On 4/7/23

Iron sucrose 100 mg iv at 8AM 

On 5/7/23 

Iron sucrose 100 mg iv at 8 AM

On 6/7/23
 Iron sucrose 100 mg iv at 8 AM

On 7/7/23

Iron sucrose 100 mg iv at 8 AM

And daily on vitals monitoring .